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Variant (rsID / SNP)

rs34625105

RAPSN

rs34625105 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAPSN. Location: chromosome 11, position 47,464,284. Clinical significance in the table: Benign.

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Reference-table entries

RAPSNBenign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
11:47464284
Cytoband
11p11.2
HGVS
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln)
Allele change
Missense_R205Q

Associated conditions / phenotypes

Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 11|Congenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.